Article
Variable phenotypes associated with aromatase (CYP19) insufficiency in humans.
The Journal of clinical endocrinology and metabolism - 1 Mar 2007
Lin Lin, Ercan Oya, Raza Jamal, Burren Christine P, Creighton Sarah M, Auchus Richard J, Dattani Mehul T, Achermann John C
Abstract excerpt
CONTEXT: The P450 enzyme aromatase (CYP19) plays a crucial role in the endocrine and paracrine biosynthesis of estrogens from androgens in many diverse estrogen-responsive tissues. Complete aromatase deficiency has been reported in a small number of 46,XX girls with genital ambiguity and absent pubertal development, but it is unknown whether nonclassic phenotypes exist. OBJECTIVE: The objective of this study was...
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